Variant report

Variant	rs73276080
Chromosome Location	chr17:15903148-15903149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:493)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr17:15902785-15903294	A549	lung:	n/a	n/a
2	MYBL2	chr17:15902445-15903320	HepG2	liver:	n/a	n/a
3	NR3C1	chr17:15902655-15903667	A549	lung:	n/a	n/a
4	PML	chr17:15902519-15903284	GM12878	blood:	n/a	n/a
5	BCL3	chr17:15902497-15903276	A549	lung:	n/a	n/a
6	POLR2A	chr17:15902220-15903412	HCT-116	colon:	n/a	n/a
7	ZC3H11A	chr17:15902855-15903186	K562	blood:	n/a	n/a
8	BCLAF1	chr17:15902696-15903341	GM12878	blood:	n/a	n/a
9	CREB1	chr17:15902549-15903358	ECC-1	luminal epithelium:	n/a	n/a
10	SMC3	chr17:15902476-15903177	GM12878	blood:	n/a	chr17:15902750-15902760
11	MYC	chr17:15902760-15903272	MCF-7	breast:	n/a	n/a
12	EP300	chr17:15902390-15903161	A549	lung:	n/a	n/a
13	POLR2A	chr17:15902684-15903366	A549	lung:	n/a	n/a
14	MXI1	chr17:15901356-15904393	SK-N-SH	brain:	n/a	n/a
15	ELF1	chr17:15902800-15903272	K562	blood:	n/a	n/a
16	EP300	chr17:15902539-15903310	HepG2	liver:	n/a	n/a
17	ZBTB33	chr17:15902817-15903258	A549	lung:	n/a	n/a
18	POLR2A	chr17:15902375-15903779	Hela-S3	cervix:	n/a	n/a
19	ZNF143	chr17:15902601-15903895	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr17:15902641-15903630	K562	blood:	n/a	n/a
21	HA-E2F1	chr17:15902616-15903639	Hela-S3	cervix:	n/a	chr17:15902831-15902842 chr17:15902786-15902795 chr17:15902748-15902757
22	WRNIP1	chr17:15902885-15903175	GM12878	blood:	n/a	n/a
23	POLR2A	chr17:15902583-15903995	H1-neurons	neurons:	n/a	n/a
24	HDAC2	chr17:15902639-15903257	MCF-7	breast:	n/a	n/a
25	ETS1	chr17:15902754-15903266	K562	blood:	n/a	chr17:15902786-15902797
26	HEY1	chr17:15902616-15903386	K562	blood:	n/a	chr17:15902767-15902782
27	ZNF143	chr17:15902431-15903938	GM12878	blood:	n/a	n/a
28	CEBPD	chr17:15902994-15903367	HepG2	liver:	n/a	n/a
29	TAF1	chr17:15902716-15903361	MCF-7	breast:	n/a	n/a
30	CREB1	chr17:15902623-15903388	GM12878	blood:	n/a	n/a
31	POLR2A	chr17:15902436-15904104	GM18505	blood:	n/a	n/a
32	POLR2A	chr17:15902723-15903458	GM12878	blood:	n/a	n/a
33	ELF1	chr17:15902792-15903329	HepG2	liver:	n/a	n/a
34	PAX5	chr17:15902792-15903165	GM12878	blood:	n/a	n/a
35	MXI1	chr17:15902457-15904326	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr17:15902488-15903190	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr17:15902726-15903305	K562	blood:	n/a	n/a
38	YY1	chr17:15902421-15903777	HepG2	liver:	n/a	n/a
39	RUNX3	chr17:15902713-15903323	GM12878	blood:	n/a	n/a
40	USF1	chr17:15902500-15903275	A549	lung:	n/a	n/a
41	REST	chr17:15902656-15903293	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr17:15902436-15903786	K562	blood:	n/a	n/a
43	MAZ	chr17:15902487-15903905	HepG2	liver:	n/a	n/a
44	TEAD4	chr17:15902794-15903208	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr17:15902330-15904079	MCF-7	breast:	n/a	n/a
46	REST	chr17:15902728-15903255	SK-N-SH	brain:	n/a	n/a
47	SP1	chr17:15902807-15903300	GM12878	blood:	n/a	n/a
48	PBX3	chr17:15902474-15903283	SK-N-SH	brain:	n/a	n/a
49	CREB1	chr17:15902427-15903819	A549	lung:	n/a	n/a
50	MAX	chr17:15902439-15903885	NB4	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:
2	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:
3	chr17:15902723..15903444-chr6:33239440..33240262,2	Hela-S3	cervix:
4	chr11:125439057..125439579-chr17:15902732..15903484,2	NB4	blood:
5	chr17:15848046..15849969-chr17:15901406..15903295,2	MCF-7	breast:
6	chr17:15903003..15903658-chr3:58419013..58419568,2	Hela-S3	cervix:
7	chr17:15902947..15903675-chr3:13036144..13036734,2	HCT-116	colon:
8	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
9	chr17:15902768..15903899-chr17:28443566..28444410,4	Hela-S3	cervix:
10	chr17:15902833..15904760-chr6:36560081..36562518,2	MCF-7	breast:
11	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
12	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
13	chr17:15902603..15903275-chr3:150264080..150264900,2	Hela-S3	cervix:
14	chr14:103851233..103852207-chr17:15902803..15903546,2	Hela-S3	cervix:
15	chr17:15902955..15905510-chr17:16117213..16119076,2	K562	blood:

No data

Variant related genes	Relation type
TTC19	TF binding region
ZSWIM7	TF binding region
ENSG00000144895	Chromatin interaction
ENSG00000266261	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000168291	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000126653	Chromatin interaction
ENSG00000170425	Chromatin interaction
ENSG00000199071	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000149547	Chromatin interaction
ENSG00000144711	Chromatin interaction
ENSG00000251537	Chromatin interaction
ENSG00000223501	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12103931	1.00[EUR][1000 genomes]
rs2228101	1.00[EUR][1000 genomes]
rs57479165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58182068	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58206797	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58517927	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58678411	1.00[EUR][1000 genomes]
rs59239162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59242320	1.00[EUR][1000 genomes]
rs59543390	1.00[EUR][1000 genomes]
rs59647552	1.00[EUR][1000 genomes]
rs59805617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60314157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60453431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60636875	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812331	1.00[EUR][1000 genomes]
rs60842225	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61374610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61478648	1.00[EUR][1000 genomes]
rs7209874	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7209920	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211406	1.00[EUR][1000 genomes]
rs7213299	1.00[EUR][1000 genomes]
rs73274315	1.00[EUR][1000 genomes]
rs73274366	1.00[EUR][1000 genomes]
rs73274391	1.00[EUR][1000 genomes]
rs73274394	1.00[EUR][1000 genomes]
rs73276038	1.00[EUR][1000 genomes]
rs73276041	1.00[EUR][1000 genomes]
rs73276049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276056	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276059	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73276085	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278155	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73278190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280217	1.00[EUR][1000 genomes]
rs73280221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280227	1.00[EUR][1000 genomes]
rs73280233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280240	1.00[EUR][1000 genomes]
rs73280256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280272	1.00[EUR][1000 genomes]
rs73280300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73280301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73281909	1.00[EUR][1000 genomes]
rs73281922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
16	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
19	esv10435	chr17:15902625-15904710	Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15901600-15903800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr17:15901600-15904000	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr17:15901600-15904400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:15901600-15904400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr17:15901800-15903800	Active TSS	Brain Angular Gyrus	brain
6	chr17:15901800-15903800	Active TSS	Brain Anterior Caudate	brain
7	chr17:15901800-15903800	Active TSS	Brain Cingulate Gyrus	brain
8	chr17:15901800-15903800	Active TSS	Brain Hippocampus Middle	brain
9	chr17:15901800-15903800	Active TSS	Fetal Kidney	kidney
10	chr17:15901800-15904000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr17:15901800-15904000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:15901800-15904000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:15901800-15904000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:15901800-15904000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:15901800-15904000	Active TSS	Fetal Intestine Large	intestine
16	chr17:15901800-15904000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr17:15901800-15904000	Active TSS	NHEK	skin
18	chr17:15901800-15904200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr17:15901800-15904200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr17:15901800-15904400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr17:15901800-15904600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr17:15901800-15904600	Active TSS	Stomach Smooth Muscle	stomach
23	chr17:15902000-15903400	Active TSS	Fetal Muscle Leg	muscle
24	chr17:15902000-15903600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:15902000-15903600	Active TSS	Adipose Nuclei	Adipose
26	chr17:15902000-15903600	Active TSS	Placenta	Placenta
27	chr17:15902000-15903600	Active TSS	Thymus	Thymus
28	chr17:15902000-15903800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:15902000-15903800	Active TSS	Primary T cells from cord blood	blood
30	chr17:15902000-15903800	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr17:15902000-15903800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:15902000-15903800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:15902000-15903800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr17:15902000-15903800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr17:15902000-15903800	Active TSS	Fetal Brain Female	brain
36	chr17:15902000-15903800	Active TSS	Fetal Lung	lung
37	chr17:15902000-15903800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr17:15902000-15903800	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr17:15902000-15903800	Active TSS	Osteobl	bone
40	chr17:15902000-15904000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr17:15902000-15904000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr17:15902000-15904000	Active TSS	Liver	Liver
43	chr17:15902000-15904000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr17:15902000-15904000	Active TSS	Colonic Mucosa	Colon
45	chr17:15902000-15904000	Active TSS	Colon Smooth Muscle	Colon
46	chr17:15902000-15904000	Active TSS	Fetal Stomach	stomach
47	chr17:15902000-15904000	Active TSS	Psoas Muscle	Psoas
48	chr17:15902000-15904000	Active TSS	Rectal Smooth Muscle	rectum
49	chr17:15902000-15904000	Active TSS	Right Ventricle	heart
50	chr17:15902000-15904000	Active TSS	Hela-S3	cervix

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